A447G Summary

SCN5A A447G was found in 1 paper (see below) with a total of 20 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A447G is present in 19 out of 272122 alleles in gnomAD (minor allele frequency of 0.006982%). A447G has been functionally characterized in 0 papers. Other variants at the same resdue are A447D .A447G .A447P .A447S .A447T .A447V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A447G Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2012928320101000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A447G Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
Tolerated 0.235 -2.47 possiblydamaging 0.951 2.152 0.21 -2 0.538

A447G has 30 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
432 14.7
433 14.2 R433C
434 13.7
435 13.2
436 12.6
437 12
438 11.4
439 10.7
440 10.1
441 9.3
442 8.5
443 7.6
444 6.6
445 5.4 H445D
446 3.8 E446K
448 3.8
449 5.4 T449A
450 6.6
451 7.6
452 8.5
453 9.3 V453M
454 10.1
455 10.7
456 11.4 V456M
457 12
458 12.6 R458C R458H
459 13.2
460 13.7
461 14.2 L461V
462 14.7 E462K